D66V (p.Asp66Val) variant of AGL (Glycogen debranching enzyme)
D66V (p.Asp66Val) in AGL (Glycogen debranching enzyme) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
D66V (p.Asp66Val) variant details
- p.Asp66Val
- gnomAD 1-99861617-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.174
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.04
- MetaSVM -1.05
- CADD 16.96
- Population evidence available
- Structural context available
- Literature evidence available